Ngā hua rapu - Rachel Gillespie

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  1. 1
    Inflammation, Immunity, and amyotrophic lateral sclerosis: I. Etiology and pathology

    Inflammation, Immunity, and amyotrophic lateral sclerosis: I. Etiology and pathology mā Miles S. Lyon, Marlena Wosiski‐Kuhn, Rachel Gillespie, James B. Caress, Carol Milligan

    I whakaputaina 2018
    Whiwhi kuputuhi katoa
    Revisão
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  2. 2
    Diagnosing the cause of bilateral paediatric cataracts: comparison of standard testing with a next-generation sequencing approach

    Diagnosing the cause of bilateral paediatric cataracts: comparison of standard testing with a next-generation sequencing approach mā Mahmoud Musleh, Georgina Hall, I. Christopher Lloyd, Rachel Gillespie, S. Waller, Sofia Douzgou, Jill Clayton‐Smith, Elias Kehdi, Graeme Black, Jane Ashworth

    I whakaputaina 2016
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  3. 3
    Next-generation Sequencing in the Diagnosis of Metabolic Disease Marked by Pediatric Cataract

    Next-generation Sequencing in the Diagnosis of Metabolic Disease Marked by Pediatric Cataract mā Rachel Gillespie, Jill Urquhart, Beverley Anderson, Simon G. Williams, Sarah Waller, Jane Ashworth, Susmito Biswas, Simon Jones, Fiona Stewart, I. Christopher Lloyd, Jill Clayton‐Smith, Graeme Black

    I whakaputaina 2015
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Revisão
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  4. 4
    Molecular findings from 537 individuals with inherited retinal disease

    Molecular findings from 537 individuals with inherited retinal disease mā Jamie M. Ellingford, Stephanie Barton, Sanjeev S. Bhaskar, James O’Sullivan, Simon G. Williams, Janine A. Lamb, Binay Panda, Panagiotis I. Sergouniotis, Rachel Gillespie, Stephen P. Daiger, Georgina Hall, Theodora Gale, I. Christopher Lloyd, Paul N. Bishop, Simon Ramsden, Graeme Black

    I whakaputaina 2016
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  5. 5
    Mutations in<i>SIPA1L3</i>cause eye defects through disruption of cell polarity and cytoskeleton organization

    Mutations in<i>SIPA1L3</i>cause eye defects through disruption of cell polarity and cytoskeleton organization mā Rebecca Greenlees, Marija Mihelec, Saira Yousoof, Daniel Speidel, Selwin K. Wu, Silke Rinkwitz, Ivan Prokudin, Rahat Perveen, Anson Cheng, Alan Ma, Benjamin M. Nash, Rachel Gillespie, David A.F. Loebel, Jill Clayton‐Smith, I. Christopher Lloyd, John Grigg, Patrick Tam, Alpha S. Yap, Thomas Becker, Graeme Black, Elena V. Semina, Robyn V. Jamieson

    I whakaputaina 2015
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  6. 6
    Biallelic Mutations in the Autophagy Regulator DRAM2 Cause Retinal Dystrophy with Early Macular Involvement

    Biallelic Mutations in the Autophagy Regulator DRAM2 Cause Retinal Dystrophy with Early Macular Involvement mā Mohammed E. El‐Asrag, Panagiotis I. Sergouniotis, Martin McKibbin, Vincent Plagnol, Eamonn Sheridan, Naushin Waseem, Zakia Abdelhamed, Declan J. McKeefry, Kristof Van Schil, James A. Poulter, Colin A. Johnson, Ian Carr, Bart P. Leroy, Elfride De Baere, Chris F. Inglehearn, Andrew R. Webster, Carmel Toomes, Manir Ali, Graeme Black, Georgina Hall, Stuart Ingram, Rachel Gillespie, Simon Ramsden, Forbes D.C. Manson, Alison J. Hardcastle, Michel Michaelides, Michael E. Cheetham, Gavin Arno, Niclas Thomas, Shomi S. Bhattacharya, Tony Moore, Andrea H. Németh, Susan M. Downes, Stefano Lise, Emma Lord

    I whakaputaina 2015
    Whiwhi kuputuhi katoa
    Artigo
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  7. 7
    Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa

    Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa mā Gavin Arno, Smriti A. Agrawal, Aiden Eblimit, James Bellingham, Mingchu Xu, Feng Wang, Christina Chakarova, David A. Parfitt, Amelia Lane, Thomas Burgoyne, Sarah Hull, Keren Carss, Alessia Fiorentino, Matthew Hayes, Peter Munro, Ralph Nicols, Nikolas Pontikos, Graham E. Holder, Chinwe Asomugha, F. Lucy Raymond, Anthony T. Moore, Vincent Plagnol, Michel Michaelides, Alison J. Hardcastle, Yumei Li, Catherine A. Cukras, Andrew R. Webster, Michael E. Cheetham, Rui Chen, Graeme Black, Georgina Hall, Stuart Ingram, Rachel Gillespie, Forbes D.C. Manson, Panagiotis I. Sergouniotis, Chris F. Inglehearn, Carmel Toomes, Manir Ali, Martin McKibbin, James A. Poulter, Kamron Khan, Emma Lord, Andrea H. Németh, Susan M. Downes, Jing Yu, Stefano Lise, Gavin Arno, Alessia Fiorentino, Nikos Ponitkos, Vincent Plagnol, Michel Michaelides, Alison J. Hardcastle, Michael E. Cheetham, Andrew R. Webster, Veronica van Heyningen

    I whakaputaina 2016
    Whiwhi kuputuhi katoa
    Artigo
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  8. 8
    Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies

    Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies mā Mingchu Xu, Ya‐Jing Xie, Hana Abouzeid, Christopher T. Gordon, Alessia Fiorentino, Zixi Sun, Anna Lehman, Ihab S. Osman, Rachayata Dharmat, Rosa Riveiro-Álvarez, Linda Bapst-Wicht, Darwin Babino, Gavin Arno, Virginia Busetto, Li Zhao, Hui Li, Miguel Ángel López-Martínez, Liliana F. Azevedo, Laurence Hubert, Nikolas Pontikos, Aiden Eblimit, Isabel Lorda‐Sánchez, Valeria Kheir, Vincent Plagnol, Myriam Oufadem, Zachry T. Soens, Lizhu Yang, Christine Bôle‐Feysot, Rolph Pfundt, Nathalie Allaman-Pillet, Patrick Nitschké, Michael E. Cheetham, Stanislas Lyonnet, Smriti A. Agrawal, Huajin Li, Gaëtan Pinton, Michel Michaelides, Claude Besmond, Yumei Li, Zhisheng Yuan, Johannes von Lintig, Andrew R. Webster, Hervé Le Hir, Peter Stoilov, Jeanne Amiel, Alison J. Hardcastle, Carmen Ayuso, Ruifang Sui, Rui Chen, Rando Allikmets, Daniel F. Schorderet, Graeme Black, Georgina Hall, Rachel Gillespie, Simon Ramsden, Forbes D.C. Manson, Panagiotis I. Sergouniotis, Chris F. Inglehearn, Carmel Toomes, Manir Ali, Martin McKibbin, James A. Poulter, Emma Lord, Andrea H. Németh, Stephanie Halford, Susan M. Downes, Jing Yu

    I whakaputaina 2017
    Whiwhi kuputuhi katoa
    Artigo
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